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NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg) AND Finnish congenital nephrotic syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001278568.1

Allele description [Variation Report for NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg)]

NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg)

Gene:
NPHS1:NPHS1 adhesion molecule, nephrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.12
Genomic location:
Preferred name:
NM_004646.4(NPHS1):c.860C>G (p.Thr287Arg)
HGVS:
  • NC_000019.10:g.35849128G>C
  • NG_013356.2:g.25160C>G
  • NG_051206.1:g.2494G>C
  • NM_004646.4:c.860C>GMANE SELECT
  • NP_004637.1:p.Thr287Arg
  • LRG_693t1:c.860C>G
  • LRG_693:g.25160C>G
  • NC_000019.9:g.36340030G>C
  • NM_004646.3:c.860C>G
Protein change:
T287R
Links:
dbSNP: rs1333165836
NCBI 1000 Genomes Browser:
rs1333165836
Molecular consequence:
  • NM_004646.4:c.860C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Finnish congenital nephrotic syndrome (NPHS1)
Synonyms:
NEPHROTIC SYNDROME, TYPE 1; Nephrosis 1, congenital, Finnish type; Congenital nephrotic syndrome 1
Identifiers:
MONDO: MONDO:0009732; MedGen: C0403399; Orphanet: 839; OMIM: 256300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001465590Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 14, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001465590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022